Squamous cell carcinoma in a pregnant woman with recessive dystrophic epidermolysis bullosa

Abstract

We report the case of a pregnant woman with recessive dystrophic epidermolysis bullosa. During pregnancy, she presents with a large, rapidly growing, tumor on her right forearm, whose biopsy revealed an invasive squamous cell carcinoma. Amputation by the middle third of the forearm was performed at 21 weeks of pregnancy, without intra- or post-operative complications. The remainder of pregnancy was unremarkable and, at 36 weeks, she gave birth to a healthy baby. One month after delivery, a large lymph node conglomerate was detected in the right axilla, highly suggestive of metastatic disease and complete lymph node dissection was then performed. Despite the prompt institution of chemotherapy, the patient died a few months later due to metastatic disease.

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

“…Thirty patients were treated with conventional chemotherapy ( n = 12) or electrochemotherapy (chemotherapy after local electroporation; n = 18). The clinical outcomes of six patients treated with conventional chemotherapy were further described: one demonstrated disease progression [ 37 ], one switched to cetuximab therapy due to poor tolerance of chemotherapy [ 15 ], and four died [ 17 , 33 , 37 , 47 ]. In comparison, the results of electrochemotherapy are more favorable.…”

Dystrophic Epidermolysis Bullosa (DEB): How Can Pregnancy Alter the Course of This Rare Disease? An Updated Literature Review on Obstetrical Management with an Additional Italian Experience

“…Anemia was associated with, respectively, hypothyroidism and vitamin D deficiency in two cases reported by Boria et al [12]. Noteworthy, Araújo et al [15] reported a case of squamous cell cancer (SCC) that arose early in the pregnancy and led to amputation of the right hand, while Lopes and coworkers [20] described a case of SCC that arose before conception and progressed during pregnancy.…”

“…Elective or emergency CS revealed itself as being mandatory within six studies [11,12,15,17,21,22], due to (i) genital mucous lesions in two cases [11,15]; (ii) vaginal stenosis in one case [12]; and (iii) obstetrical indications within the remaining three studies [17,21,22]. Finally, indications for CS were not provided in three cases [14,20,33]. Overall, data available in the literature seem to encourage the vaginal route for delivery whenever possible.…”

Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus‐based guideline*

“…R18 ↑↑ Offer ongoing routine EB skin monitoring and surveillance for skin cancer throughout pregnancy and the postpartum period in patients at greatest risk of EB‐related squamous cell carcinoma. 51 …”

“…R18 ↑↑ Offer ongoing routine EB skin monitoring and surveillance for skin cancer throughout pregnancy and the postpartum period in patients at greatest risk of EB-related squamous cell carcinoma. 51 See Table 3 for a summary of the recommendations in preconception/antenatal planning. B: Labour and birth B.1 Advance preparations R19 ↑ Consider sourcing a 'dressings pack' from the EB specialist team for the woman and/or baby.…”